Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.020 GeneticVariation BEFREE Here we broaden the spectrum of clinical manifestations associated with homozygous/compound heterozygous RYR1 gene variants to include a wide range of manifestations from FADS through neonatal hypotonia to a 35-year-old male with AMC and PhD degree. 30652412

2019
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.020 GeneticVariation BEFREE First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. 19734047

2009